CCDC8, or coiled-coil domain-containing 8, has been identified to play roles in multiple biological processes. It has been linked to apoptosis regulation as an interacting protein of p53, and is also involved in growth-related pathways, potentially acting in a pathway with CUL7 and OBSL1 to control human growth [3,4].

In myocardial ischemia-reperfusion (I/R) injury, CCDC8 has been shown to be a key mediator of cardiomyocyte apoptosis. Its expression was elevated in the left ventricle of patients with left ventricular failure (LVF) and in mouse cardiomyocytes subjected to myocardial I/R injury. Overexpression of CCDC8 via AAV9 exacerbated cardiac dysfunction, while silencing CCDC8 suppressed apoptosis and ROS production in H9c2 cells under hypoxia-reoxygenation conditions. mRNA sequencing and KEGG analysis indicated CCDC8 regulates genes related to cardiac contractility and the TNF signaling pathway [1].

In the context of 3-M syndrome, a primordial growth disorder, mutations in CCDC8 have been identified. CCDC8 knockout mice have been used to establish an animal model for 3-M syndrome, suggesting its role in growth-related biological processes [2].

In conclusion, CCDC8 is important in apoptosis regulation, especially in myocardial I/R injury, and in growth-related biological functions. The use of gene knockout mouse models, such as in the study of myocardial I/R injury and 3-M syndrome, has been crucial in revealing these functions, providing potential therapeutic targets for related diseases.